ClinVar for MedGen (Select 338506) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3239701	NM_153676.4(USH1C):c.2525dup (p.Glu844fs)	USH1C (E525fs +2 more)	Duplication (frameshift variant +1 more)	Usher syndrome type 1C	GLikely pathogenic
Select item 3239700	NM_005709.4(USH1C):c.1284+5347_1284+5350del	USH1C	Deletion (intron variant +1 more)	Usher syndrome type 1C	GLikely pathogenic
Select item 3065722	NM_153676.4(USH1C):c.1228C>T (p.Arg410Cys)	USH1C (R410C)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 1C	GUncertain significance
Select item 3065229	NM_153676.4(USH1C):c.272A>G (p.Asp91Gly)	USH1C (D91G)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 1C	GUncertain significance
Select item 1803234	NM_153676.4(USH1C):c.387+1G>A	USH1C	Single nucleotide variant (splice donor variant)	not provided +2 more	GLikely pathogenic
Select item 1726916	NM_153676.4(USH1C):c.301_311del (p.Ser101fs)	USH1C (S101fs)	Deletion (frameshift variant +1 more)	Usher syndrome type 1C	GLikely pathogenic
Select item 1726834	NM_153676.4(USH1C):c.546G>A (p.Trp182Ter)	USH1C (W182*)	Single nucleotide variant (nonsense +1 more)	Usher syndrome type 1C +1 more	GPathogenic/Likely pathogenic
Select item 1726825	NM_153676.4(USH1C):c.84_85insAAGAGACA (p.Val29fs)	USH1C (V29fs)	Insertion (frameshift variant +1 more)	Usher syndrome type 1C	GLikely pathogenic
Select item 1726459	NM_153676.4(USH1C):c.2424_2431del (p.Lys808fs)	USH1C (K489fs +2 more)	Deletion (frameshift variant +1 more)	Usher syndrome type 1C	GLikely pathogenic
Select item 1726353	NM_153676.4(USH1C):c.84_85insC (p.Val29fs)	USH1C (V29fs)	Insertion (frameshift variant +1 more)	Usher syndrome type 1C	GLikely pathogenic
Select item 1726195	NM_153676.4(USH1C):c.925_926insTG (p.Gln309fs)	USH1C (Q290fs +1 more)	Insertion (frameshift variant +1 more)	Usher syndrome type 1C	GLikely pathogenic
Select item 1725406	NM_153676.4(USH1C):c.916G>T (p.Glu306Ter)	USH1C (E287* +1 more)	Single nucleotide variant (nonsense +1 more)	Usher syndrome type 1C	GLikely pathogenic
Select item 1724730	NM_153676.4(USH1C):c.326_327insTAAAA (p.Cys110fs)	USH1C (C110fs)	Insertion (frameshift variant +1 more)	Usher syndrome type 1C	GLikely pathogenic
Select item 1724490	NM_153676.4(USH1C):c.2275A>T (p.Lys759Ter)	USH1C (K440* +2 more)	Single nucleotide variant (nonsense +1 more)	Usher syndrome type 1C	GLikely pathogenic
Select item 1724289	NM_153676.4(USH1C):c.891_892del (p.Met298fs)	USH1C (M279fs +1 more)	Deletion (non-coding transcript variant +1 more)	Usher syndrome type 1C	GLikely pathogenic
Select item 1724286	NM_153676.4(USH1C):c.913_925del (p.Ala305fs)	USH1C (A286fs +1 more)	Deletion (frameshift variant +1 more)	Usher syndrome type 1C	GLikely pathogenic
Select item 1724257	NM_153676.4(USH1C):c.2397_2398del (p.Asp800fs)	USH1C (D481fs +2 more)	Deletion (frameshift variant +1 more)	Usher syndrome type 1C	GLikely pathogenic
Select item 1724199	NM_153676.4(USH1C):c.2359del (p.Arg787fs)	USH1C (R468fs +2 more)	Deletion (frameshift variant +1 more)	Usher syndrome type 1C	GLikely pathogenic
Select item 1724186	NM_153676.4(USH1C):c.81T>A (p.Tyr27Ter)	USH1C (Y27*)	Single nucleotide variant (nonsense +1 more)	Usher syndrome type 1C	GLikely pathogenic
Select item 1698969	NM_153676.4(USH1C):c.194T>C (p.Leu65Pro)	USH1C (L65P)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 1C	GUncertain significance
Select item 1333674	NM_153676.4(USH1C):c.917_939dup (p.Gln315fs)	USH1C (Q296fs +1 more)	Duplication (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1315460	NM_153676.4(USH1C):c.1793G>A (p.Arg598His)	USH1C (R598H)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 1 +3 more	GUncertain significance
Select item 1249266	NM_153676.4(USH1C):c.2134-22dup	USH1C	Duplication (intron variant)	not provided	GBenign
Select item 1212996	NM_153676.4(USH1C):c.2184+21T>G	USH1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1209665	NM_153676.4(USH1C):c.2269C>T (p.Arg757Cys)	USH1C (R438C +2 more)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 1C +3 more	GConflicting classifications of pathogenicity
Select item 1181907	NM_153676.4(USH1C):c.2134-11T>C	USH1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1180585	NM_153676.4(USH1C):c.1413+52C>T	USH1C	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1180573	NM_153676.4(USH1C):c.2546+125A>G	USH1C	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1180560	NM_153676.4(USH1C):c.521+56A>G	USH1C	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1180559	NM_153676.4(USH1C):c.579+61G>A	USH1C	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1118904	NM_153676.4(USH1C):c.204G>T (p.Leu68=)	USH1C	Single nucleotide variant (synonymous variant +1 more)	Usher syndrome type 1C +2 more	GConflicting classifications of pathogenicity
Select item 1060677	NM_153676.4(USH1C):c.579+8C>T	USH1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1060288	NM_153676.4(USH1C):c.538C>G (p.Leu180Val)	USH1C (L180V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1056761	NM_153676.4(USH1C):c.163C>T (p.Arg55Cys)	USH1C (R55C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1042355	NM_153676.4(USH1C):c.2317G>A (p.Asp773Asn)	USH1C (D454N +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1039054	NM_153676.4(USH1C):c.614G>A (p.Arg205Gln)	USH1C (R205Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1019458	NM_153676.4(USH1C):c.2371G>A (p.Glu791Lys)	USH1C (E472K +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1019056	NM_153676.4(USH1C):c.358G>A (p.Gly120Ser)	USH1C (G120S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1014574	NM_153676.4(USH1C):c.781G>A (p.Val261Ile)	USH1C (V261I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1009505	NM_153676.4(USH1C):c.238C>T (p.Arg80Trp)	USH1C (R80W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1007524	NM_153676.4(USH1C):c.530A>G (p.Asp177Gly)	USH1C (D177G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1005994	NM_153676.4(USH1C):c.928C>T (p.Arg310Cys)	USH1C (R291C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1005565	NM_153676.4(USH1C):c.239G>A (p.Arg80Gln)	USH1C (R80Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1003465	NM_153676.4(USH1C):c.502G>A (p.Gly168Ser)	USH1C (G168S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1001050	NM_153676.4(USH1C):c.844C>T (p.Arg282Cys)	USH1C (R282C)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1000734	NM_153676.4(USH1C):c.2312G>T (p.Gly771Val)	USH1C (G452V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 992089	NM_153676.4(USH1C):c.341T>C (p.Ile114Thr)	USH1C (I114T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 992088	NM_153676.4(USH1C):c.405C>G (p.Val135=)	USH1C	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 992087	NM_153676.4(USH1C):c.412A>G (p.Asn138Asp)	USH1C (N138D)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 1C	GUncertain significance
Select item 992086	NM_153676.4(USH1C):c.442G>A (p.Glu148Lys)	USH1C (E148K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 992085	NM_153676.4(USH1C):c.501C>T (p.Ile167=)	USH1C	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 992084	NM_153676.4(USH1C):c.514G>T (p.Val172Leu)	USH1C (V172L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 992083	NM_153676.4(USH1C):c.567G>T (p.Val189=)	USH1C	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 992082	NM_153676.4(USH1C):c.600C>T (p.Gly200=)	USH1C	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 992081	NM_153676.4(USH1C):c.776T>G (p.Val259Gly)	USH1C (V259G)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 1C	GUncertain significance
Select item 992080	NM_153676.4(USH1C):c.864T>G (p.Ile288Met)	USH1C (I288M)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 992079	NM_153676.4(USH1C):c.1183C>T (p.His395Tyr)	USH1C (H376Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 992078	NM_005709.4(USH1C):c.1218G>T (p.Gln406His)	USH1C (Q387H +1 more)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 1C	GUncertain significance
Select item 992077	NM_005709.4(USH1C):c.1255G>A (p.Asp419Asn)	USH1C (D400N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 992076	NM_153676.4(USH1C):c.2260C>T (p.Arg754Trp)	USH1C (R435W +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 992075	NM_153676.4(USH1C):c.2270G>A (p.Arg757His)	USH1C (R438H +2 more)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 1C +3 more	GUncertain significance
Select item 992074	NM_153676.4(USH1C):c.2321C>T (p.Ser774Phe)	USH1C (S455F +2 more)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 1C	GUncertain significance
Select item 992073	NM_153676.4(USH1C):c.2327T>A (p.Ile776Asn)	USH1C (I457N +2 more)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 1C	GUncertain significance
Select item 992072	NM_153676.4(USH1C):c.2374C>T (p.Arg792Trp)	USH1C (R473W +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 972616	NM_153676.4(USH1C):c.901C>T (p.Arg301Trp)	USH1C (R282W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 972399	NM_153676.4(USH1C):c.2310C>T (p.Gly770=)	USH1C	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 969523	NM_153676.4(USH1C):c.2401G>A (p.Glu801Lys)	USH1C (E501K +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 968559	NM_153676.4(USH1C):c.361G>A (p.Gly121Ser)	USH1C (G121S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +4 more	GUncertain significance
Select item 966729	NM_153676.4(USH1C):c.407G>A (p.Arg136Gln)	USH1C (R136Q)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 965881	NM_153676.4(USH1C):c.870T>A (p.Ala290=)	USH1C	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 957278	NM_153676.4(USH1C):c.409A>G (p.Ile137Val)	USH1C (I137V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 950695	NM_153676.4(USH1C):c.2539G>A (p.Asp847Asn)	USH1C (D847N +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 943545	NM_153676.4(USH1C):c.2225T>C (p.Met742Thr)	USH1C (M423T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 938962	NM_153676.4(USH1C):c.952C>A (p.Leu318Ile)	USH1C (L318I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 929925	NM_153676.4(USH1C):c.121G>A (p.Val41Met)	USH1C (V41M)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 929922	NM_153676.4(USH1C):c.2377C>T (p.His793Tyr)	USH1C (H793Y +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GUncertain significance
Select item 880386	NM_153676.4(USH1C):c.-109A>T	USH1C	Single nucleotide variant (5 prime UTR variant +1 more)	Usher syndrome type 1C	GUncertain significance
Select item 880385	NM_153676.4(USH1C):c.-60T>G	USH1C	Single nucleotide variant (5 prime UTR variant +1 more)	Usher syndrome type 1C +2 more	GUncertain significance
Select item 880339	NM_153676.4(USH1C):c.875C>G (p.Ala292Gly)	USH1C (A292G)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GUncertain significance
Select item 880303	NM_153676.4(USH1C):c.2490+6A>C	USH1C	Single nucleotide variant (intron variant)	Usher syndrome type 1C	GUncertain significance
Select item 880302	NM_153676.4(USH1C):c.2541T>C (p.Asp847=)	USH1C	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 879180	NM_153676.4(USH1C):c.200C>T (p.Pro67Leu)	USH1C (P67L)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 1C	GUncertain significance
Select item 879132	NM_153676.4(USH1C):c.923G>A (p.Arg308Gln)	USH1C (R289Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 879131	NM_153676.4(USH1C):c.1064G>T (p.Arg355Ile)	USH1C (R336I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 879130	NM_153676.4(USH1C):c.1085+7A>G	USH1C	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 879080	NM_153676.4(USH1C):c.*110C>G	USH1C	Single nucleotide variant (3 prime UTR variant +1 more)	Usher syndrome type 1C	GUncertain significance
Select item 879079	NM_153676.4(USH1C):c.*117C>G	USH1C	Single nucleotide variant (3 prime UTR variant +1 more)	Usher syndrome type 1C	GUncertain significance
Select item 879078	NM_153676.4(USH1C):c.*131G>C	USH1C	Single nucleotide variant (3 prime UTR variant +1 more)	Usher syndrome type 1C	GLikely benign
Select item 879077	NM_153676.4(USH1C):c.*241C>G	USH1C	Single nucleotide variant (3 prime UTR variant +1 more)	Usher syndrome type 1C	GUncertain significance
Select item 878540	NM_005709.4(USH1C):c.1220G>C (p.Gly407Ala)	USH1C (G407A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 878539	NM_153676.4(USH1C):c.1211-1106G>A	USH1C	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 878538	NM_153676.4(USH1C):c.2253G>A (p.Lys751=)	USH1C	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 878500	NM_153676.4(USH1C):c.*427T>C	USH1C	Single nucleotide variant (3 prime UTR variant +1 more)	Usher syndrome type 1C	GUncertain significance
Select item 877522	NM_153676.4(USH1C):c.2362G>A (p.Gly788Arg)	USH1C (G469R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 877521	NM_153676.4(USH1C):c.2437T>G (p.Tyr813Asp)	USH1C (Y494D +2 more)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 1C	GUncertain significance
Select item 860368	NM_153676.4(USH1C):c.822T>A (p.Ala274=)	USH1C	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 859227	NM_005709.4(USH1C):c.1283A>G (p.Gln428Arg)	USH1C (Q428R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 845989	NM_153676.4(USH1C):c.2281G>A (p.Glu761Lys)	USH1C (E761K +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 842318	NM_153676.4(USH1C):c.1070G>A (p.Arg357Gln)	USH1C (R338Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 839494	NM_153676.4(USH1C):c.569C>G (p.Ser190Trp)	USH1C (S190W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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